Varaico: Literature-Extracted Genetic Variants

RELN

729 papers

RefSeq Summary

This gene encodes a large secreted extracellular matrix protein thought to control cell-cell interactions critical for cell positioning and neuronal migration during brain development. This protein ma...

Pfam Domains

Reeleraa 48–184UCSCReeler domain

Reelin_subrepeat-Baa 224–351UCSCReelin subrepeat B

Reelin_subrepeat-Baa 435–560UCSCReelin subrepeat B

Reelin_subrepeat-Baa 563–671UCSCReelin subrepeat B

Reelin_subrepeat-Baa 731–862UCSCReelin subrepeat B

Reelin_subrepeat-Baa 888–1030UCSCReelin subrepeat B

Gene Aliases

HGNC Name

reelin

HGNC Alias Symbols

RL; PRO1598

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005045.4

p.G388R

c.1162G>A

Surrounding Variants

1 paper

NM_005045.4

p.S390P

c.1168T>C

1 paper

NM_005045.4

p.Q385*

c.1153C>T

1 paper

NM_005045.4

p.C384*

c.1152T>A

1 paper

NM_005045.4

p.S383R

c.1149C>G

1 paper

NM_005045.4

p.S383R

c.1149C>A

1 paper

NM_005045.4

p.S383R

c.1147A>C

1 paper

NM_005045.4

p.H382R

c.1145A>G

1 paper

NM_005045.4

p.G395R

c.1183G>C

1 paper

NM_005045.4

p.G395R

c.1183G>A

1 paper

NM_005045.4

p.N396K

c.1188T>G

1 paper

NM_005045.4

p.G398D

c.1193G>A

1 paper

NM_005045.4

p.F401L

c.1201T>C